The Role of VDR Gene Polymorphisms in Vitamin D Supplementation
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The vitamin D receptor (VDR) is a nuclear transcriptional regulator that activates by binding to 1a,25-dihydroxycholecalciferol (1a,25(OH)2D), known as calcitriol, which forms a heterodimer with the retinoid X receptor (RXR). Calcitriol signalling is responsible for regulating a range of biological functions, including calcium and metabolism of phosphorous as well as parathormones, cell proliferation, and the control of innate and adaptive immunity.
A T > C base change in the promoter region of VDR variant rs11568820 removes the binding site for the transcription factor Cdx2 downstream of exon 1e and leads to the production of a smaller protein that has reduced transcriptional activity. The F allele is present in high frequency among Asians and Europeans and in low frequency among Sub-Saharan Africans.
The results of this study enhance our understanding of how VDR gene polymorphisms influence the response to supplements in the diet that contain calcium calcitriol. People who carry the TaqI and FF genotypes of the FokI polymorphisms show higher transcriptional activation, and are associated with greater calcium absorption, a higher bone mineral density, and a lower risk of breaking. Further research using an unbiased design is required to enhance our understanding of how these genetic variations affect vitamin D supplementation and its clinical significance.
